ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002882170 SCV003242180 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 827 of the EVC2 protein (p.Arg827Cys). This variant is present in population databases (rs373953980, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004065960 SCV004865420 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.2479C>T (p.R827C) alteration is located in exon 14 (coding exon 14) of the EVC2 gene. This alteration results from a C to T substitution at nucleotide position 2479, causing the arginine (R) at amino acid position 827 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.